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Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL. Salter CG, et al. Among authors: deal c. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. Brain. 2021. PMID: 34415310 Free PMC article.
Insulin-like growth factors (IGFs): implications for aging.
Cohen P, Ocrant I, Fielder PJ, Neely EK, Gargosky SE, Deal CI, Ceda GP, Youngman O, Pham H, Lamson G, et al. Cohen P, et al. Among authors: deal ci. Psychoneuroendocrinology. 1992 Aug;17(4):335-42. doi: 10.1016/0306-4530(92)90039-a. Psychoneuroendocrinology. 1992. PMID: 1279737 Review.
Summary of the Centers for Disease Control and Prevention/National Institute of Allergy and Infectious Diseases Joint Workshop on Genital Herpes: 3-4 November 2022.
Connolly KL, Bachmann L, Hiltke T, Kersh EN, Newman LM, Wilson L, Mena L, Deal C. Connolly KL, et al. Among authors: deal c. Open Forum Infect Dis. 2024 Apr 24;11(5):ofae230. doi: 10.1093/ofid/ofae230. eCollection 2024 May. Open Forum Infect Dis. 2024. PMID: 38784760 Free PMC article. Review.
International consensus on mitotane treatment in pediatric patients with adrenal cortical tumors: indications, therapy, and management of adverse effects.
Riedmeier M, Antonini SRR, Brandalise S, Costa TEJB, Daiggi CM, de Figueiredo BC, de Krijger RR, De Sá Rodrigues KE, Deal C, Del Rivero J, Engstler G, Fassnacht M, Fernandes Luiz Canali GC, Molina CAF, Gonc EN, Gültekin M, Haak HR, Guran T, Hendriks Allaird EJ, Idkowiak J, Kuhlen M, Malkin D, Meena JP, Pamporaki C, Pinto E, Puglisi S, Ribeiro RC, Thompson LDR, Yalcin B, Van Noesel M, Wiegering V. Riedmeier M, et al. Among authors: deal c. Eur J Endocrinol. 2024 Mar 30;190(4):G15-G24. doi: 10.1093/ejendo/lvae038. Eur J Endocrinol. 2024. PMID: 38552173
Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Michael Lewiecki E. Khan AA, et al. Among authors: deal c. Osteoporos Int. 2024 May;35(5):933-934. doi: 10.1007/s00198-024-07048-x. Osteoporos Int. 2024. PMID: 38498158 Free PMC article. No abstract available.
Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A  Primary Immune Deficiency Treatment Consortium study.
Grunebaum E, Arnold DE, Logan B, Parikh S, Marsh RA, Griffith LM, Mallhi K, Chellapandian D, Lim SS, Deal CL, Kapoor N, Murguía-Favela L, Falcone EL, Prasad VK, Touzot F, Bleesing JJ, Chandrakasan S, Heimall JR, Bednarski JJ, Broglie LA, Chong HJ, Kapadia M, Prockop S, Dávila Saldaña BJ, Schaefer E, Bauchat AL, Teira P, Chandra S, Parta M, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM, Leiding JW. Grunebaum E, et al. Among authors: deal cl. J Allergy Clin Immunol. 2024 May;153(5):1423-1431.e2. doi: 10.1016/j.jaci.2024.01.013. Epub 2024 Jan 28. J Allergy Clin Immunol. 2024. PMID: 38290608
Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.
Taïeb D, Nölting S, Perrier ND, Fassnacht M, Carrasquillo JA, Grossman AB, Clifton-Bligh R, Wanna GB, Schwam ZG, Amar L, Bourdeau I, Casey RT, Crona J, Deal CL, Del Rivero J, Duh QY, Eisenhofer G, Fojo T, Ghayee HK, Gimenez-Roqueplo AP, Gill AJ, Hicks R, Imperiale A, Jha A, Kerstens MN, de Krijger RR, Lacroix A, Lazurova I, Lin FI, Lussey-Lepoutre C, Maher ER, Mete O, Naruse M, Nilubol N, Robledo M, Sebag F, Shah NS, Tanabe A, Thompson GB, Timmers HJLM, Widimsky J, Young WJ Jr, Meuter L, Lenders JWM, Pacak K. Taïeb D, et al. Among authors: deal cl. Nat Rev Endocrinol. 2024 Mar;20(3):168-184. doi: 10.1038/s41574-023-00926-0. Epub 2023 Dec 14. Nat Rev Endocrinol. 2024. PMID: 38097671 Review.
368 results